Evidence map›Paper›PMID 36505317›Full record

ArticleAmerican journal of translational research2022

SNP and DNA methylation analyses of a monozygotic twins discordant for complete endocardial cushion defect: a case report.

Bihui Bao, Hua Hu, Limei Chen, Shiyong Lu, Qifeng Tang, Zhiqing Liang

Open access · greenAbstract readCase Reports
PubMed Full text at PMC
In one paragraph

Article in American journal of translational research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 56% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

Bihui BaoDepartment of Obstetrics and Gynecology, Qingbaijiang Women's and Children's Hospital (Maternal and Child Health Hospital), West China Second University Hospital, Sichuan University Chengdu 610300, Sichuan, China.
Hua HuDepartment of Obstetrics and Gynecology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University Chongqing 400037, China.
Limei ChenDepartment of Obstetrics and Gynecology, Qingbaijiang Women's and Children's Hospital (Maternal and Child Health Hospital), West China Second University Hospital, Sichuan University Chengdu 610300, Sichuan, China.
Shiyong LuDepartment of Obstetrics and Gynecology, Qingbaijiang Women's and Children's Hospital (Maternal and Child Health Hospital), West China Second University Hospital, Sichuan University Chengdu 610300, Sichuan, China.
Qifeng TangDepartment of Anesthesiology, Shanghai Hechuan-Rhine TCM Hospital Shanghai 201103, China.
Zhiqing LiangDepartment of Obstetrics and Gynecology, The First Affiliated Hospital (Southwest Hospital), Army Medical University Chongqing 400038, China.
Maternal and Child Health Hospital of Sichuan Province · CNArmy Medical University · CNCM Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The exact cause of complete endocardial cushion defect (ECD) is still unknown. This report describes a unique pair of monozygotic twins (MZ twins) discordant for ECD. The chromosome karyotyping analysis revealed normal karyotype of 46, XY, 16qh+ and mat in both MZ twins. A genome-wide analysis of DNA using the Affymetrix SNP 6.0 revealed identical genotyping of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). An extensive methylation assay was carried out by NimbleGen 3 × 720 K CpG Island Plus RefSeq Promoter Arrays to analyze the potential epigenetic differences. The DNA methylation profiles of the affected twin seemed increased compared with that of the unaffected twin. However, further validation of Notch1 promoter hypermethylation and six top-ranked differentially methylated CpG sites by sodium bisulfate modification and methylation-specific PCR, failed to reveal consistent methylation differences between the twins. Other relevant factors, such as heritability and penetrance of the condition that place the MZ twins near to a threshold for ECD or variations in local epigenetic events in the twins' heart tissues, are probably responsible for the phenotypic discordance.

Indexed as

complete endocardial cushion defectsdiscordant phenotypeDNA polymorphismepigenetic differenceMonozygotic twins

Identifiers

PMID36505317
PMCPMC9730093
OpenAlexW4311284662

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.